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MPS3D
MCID: MCP046
MIFTS: 51
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Mucopolysaccharidosis, Type Iiid (MPS3D)
Categories:
Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases
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MalaCards integrated aliases for Mucopolysaccharidosis, Type Iiid:
Characteristics:Orphanet epidemiological data:58
sanfilippo syndrome type d
Inheritance: Autosomal recessive; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder four clinically indistinguishable biochemically distinct forms (see ) HPO:31
mucopolysaccharidosis, type iiid:
Inheritance autosomal recessive inheritance Onset and clinical course progressive Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Bone diseases Respiratory diseases Skin diseases Nephrological diseases Liver diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis External Ids:
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NIH Rare Diseases :
52
Mucopolysaccharidosis type IIID (MPS IIID) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can have severe neurological symptoms, including progressive dementia , aggressive behavior, hyperactivity, seizures , deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS IIID is caused by the missing or deficient enzyme N -acetylglucosamine 6-sulfatase. MPS IIID is inherited in an autosomal recessive manner. There is no specific treatment for this condition. Most people with MPS IIID live into their teenage years, and some live longer.
MalaCards based summary : Mucopolysaccharidosis, Type Iiid, also known as mucopolysaccharidosis type iiid, is related to mucopolysaccharidoses and mucopolysaccharidosis iii, and has symptoms including seizures, joint stiffness and diarrhea. An important gene associated with Mucopolysaccharidosis, Type Iiid is GNS (Glucosamine (N-Acetyl)-6-Sulfatase), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. Affiliated tissues include brain, spinal cord and eye, and related phenotypes are coarse facial features and hearing impairment Disease Ontology : 12 A mucopolysaccharidosis III that has material basis in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3. OMIM : 56 The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003). (252940) UniProtKB/Swiss-Prot : 73 Mucopolysaccharidosis 3D: A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Wikipedia : 74 Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare autosomal... more... |
Human phenotypes related to Mucopolysaccharidosis, Type Iiid:31 (show all 35)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:252940UMLS symptoms related to Mucopolysaccharidosis, Type Iiid:seizures, joint stiffness, diarrhea GenomeRNAi Phenotypes related to Mucopolysaccharidosis, Type Iiid according to GeneCards Suite gene sharing:26 (show all 20)
MGI Mouse Phenotypes related to Mucopolysaccharidosis, Type Iiid:45 (show all 11)
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Interventional clinical trials:
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MalaCards organs/tissues related to Mucopolysaccharidosis, Type Iiid:40
Brain,
Spinal Cord,
Eye,
Bone
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Articles related to Mucopolysaccharidosis, Type Iiid:(show all 28)
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Genes related to Mucopolysaccharidosis, Type Iiid (1 elite genes):(show all 12) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Mucopolysaccharidosis, Type Iiid:6 (show top 50) (show all 108)
UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis, Type Iiid:73
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Search
GEO
for disease gene expression data for Mucopolysaccharidosis, Type Iiid.
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Pathways related to Mucopolysaccharidosis, Type Iiid according to GeneCards Suite gene sharing:
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Cellular components related to Mucopolysaccharidosis, Type Iiid according to GeneCards Suite gene sharing:
Biological processes related to Mucopolysaccharidosis, Type Iiid according to GeneCards Suite gene sharing:
Molecular functions related to Mucopolysaccharidosis, Type Iiid according to GeneCards Suite gene sharing:
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